When a sample is collected from an infant for newborn screening, the baby’s heel is pricked with a lancet and drops of blood from the heel are collected onto a special filter paper. These drops are collected so that circles drawn on the paper are filled with blood. Then the filter paper is dried before being sent to the laboratory for testing. The blood-filled circles are called newborn bloodspots.
Normally, newborn screening is done by using dried blood from one or two circles on the card. Sometimes, if the blood wasn’t collected correctly, for example, if there is not enough blood to completely fill the circle, one or more additional bloodspots will be used. Also, if the baby’s newborn screen is abnormal, the laboratory can double-check this result by using an additional spot. Having the additional spots on the card means many babies will not need to have another blood sample collected for the repeat screening. Usually, only a small amount of blood is left over after screening is completed.
The most important use of the newborn bloodspot is for the baby’s newborn screening studies. Bloodspots can also be used if any of the screening must be repeated due to unclear or abnormal results, saving time so that the results are available to parents and their doctors quickly. For the family, other uses might include testing for forensic uses, such as identification of a missing child. They can also be used to help in the diagnosis of conditions that develop later in the child’s life and require samples from early in life for testing. Bloodspots are also important for society, because they can be used in the development of new newborn screening testing to save more babies, or to develop other types of medical testing, for detection and understanding of false negative results (results for babies who had a negative screen when they really do have a condition that should have been detected), and for population studies, such as tracking the number of cases of a condition found on NBS. These latter uses involve removal of identifying information from the samples before they are sent to researchers, to protect the privacy of the individual whose blood was collected.
Most states store the remaining bloodspots for a period of time in case they are needed for repeat testing, and also to use when the laboratories check to be sure that their testing is being done correctly (this is called quality control or quality assurance). This storage is in a secure storage facility and is supervised by the state screening laboratory. Federal regulations require that the test results be kept by the state for a period of 2 years, but there are no federal regulations at this time that define how long the bloodspots must be stored.
States store dried bloodspots to use in retesting a child who has an abnormal initial screen, to help them test the quality of the screening, to develop new newborn screening tests, and in some cases, to do scientific research on samples from which all identifying information has been removed to protect the privacy of the person who provided the sample.
All legal requirements for protection of human participants in scientific research are followed by each state that uses material from stored bloodspots for research. This includes attention to how the samples are stored, and how the samples are separated from any identifying information about the baby. In addition, any such research on the spots must be reviewed and approved by a committee that acts in the interest of the research participants. This is called an Institutional Review Board, which is made up of scientists, ethicists, and individuals from the general public. In this way, every effort is made to protect the babies from whom the samples came.
Some states keep bloodspot cards only until the screening is completed, but most keep them for a longer period of time to allow for all of the uses listed above. Each state sets their own laws that direct how long the dried bloodspots can be stored.
Those individuals who are responsible for storage and sharing of dried bloodspots must have training so that they understand all of the rules that tell how samples can be stored and used for research. Their most important job is to protect the babies who gave the blood samples. Careful records are kept of dried bloodspot use, and all research is reviewed by an Institutional Review Board to verify that patient safety and privacy are protected.
Routine newborn screening refers to the testing of the dried bloodspots to learn something that is intended to benefit the child who donated the blood sample. This screening includes study of materials in the blood that might point to a specific disorder in the child. For now, the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children recommends that each child be screened for a uniform panel of 30 conditions, and a secondary panel of 28 conditions. Research use of dried bloodspots is not intended to directly benefit the child who donated the blood sample or their family, but is intended to lead to new information that can be used to benefit other babies in the future, or to benefit the public in general.
QI refers to quality improvement and QC refers to quality control. These are processes that are used by the screening laboratories to verify that the testing equipment is working correctly to identify babies at risk for disorders, and that laboratory personnel are interpreting the results correctly. These are standard laboratory practices done in any laboratory that tests clinical samples.
Section 122.125 of the Clinical Laboratory Improvement Amendments of 1988 (CLIA) requires that newborn screening records be kept for 2 years. This is to ensure that the data will be available to the child’s healthcare provider in the event that follow-up or verification of the screening result is requested. This law refers only to the results of testing, however, and not to the actual samples. There are no federal laws that govern storage and use of samples; those laws are developed by each state to reflect the wishes of the people living in each state.
Some states require storage of the bloodspot card for a limited period of time. In other states, parents may choose to have the card destroyed or returned to them once the newborn screening is completed. To find out what the rules are in your state, contact your state health department newborn screening program. Contact information can be found on the Save Babies Through Screening State map; simply click on your state to get the contact information you need.
State policies on use of bloodspot cards for research vary. You will want to check with your state newborn screening program to learn about parental options for participation in research in your state. The Save Babies Through Screening Foundation supports education about storage and use of remaining bloodspots cards for research so that parents can make a well-informed decision about whether or not to participate, and believes strongly in the overall benefits of the research program.
There may be. If a medical condition develops in your child and can be diagnosed using the blood samples on the stored card, this would directly benefit your child, or if your child dies unexpectedly, this blood sample may still be available to assist in diagnosing what cause the death. As noted above, the samples have been used to identify children, as well. You and your child, and even your grandchildren, may also benefit indirectly from the development of new newborn screening testing or other medical tests, and from the population research that is designed to advance medical knowledge and benefit all individuals.
We at the Save Babies Through Screening Foundation are always happy to assist you in finding the information you need. You might also try calling your state health department newborn screening program for information specific to your state. Check out our state map for contact information; simply scroll over your state for the pop-up contact information.
No. The Save Babies Through Screening Foundation strongly supports newborn screening for all babies, even if you choose not to participate in storage and research use of the remaining bloodspot samples. It is essential that your baby be screened for the uniform panel of detectable conditions because of the importance of early diagnosis leading to early and effective treatment for any of these conditions if they are present. If you choose not to participate in research, it is still important to have your baby screened.